Down Syndrome In Children

Ashley Huerta Osores is a successful pharmacist, who focused her career on community service. Her journey began in the City of Baltimore, where she attended both undergraduate and professional school. Within her community, she was dedicated to serving the underprivileged. For years, she immersed herself in aiding the neighborhood. In her undergraduate years, she volunteered at the Baltimore Veterans Affairs Medical Center (VAMC); while in pharmacy school, she participated in local health fairs by giving flu shots, and she worked at a local pharmacy. Additionally, Osores was enrolled in a duel degree program, earning the Doctor in Pharmacy (PharmD) and Masters in Public Health (MPH) degree. For her, becoming a pharmacist was not enough. She felt it important to understand policies, regarding healthcare, so that she could help implement change in wide communities.

Also known as Trisomy 21, Down Syndrome is an illness due to which an superfluous genetic structure leads to delays in the manner in which a child’s mental and physical faculties develop.

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When a baby is conceived, the baby receives 23 chromosomes from each parent, equaling 46 chromosomes. Sometimes during this creation a sperm or egg cell can causes that cell to contain 24 chromosomes. When this abnormal cell is included in the conception of a baby, that baby will have 47 chromosomes. The extra chromosome causes Down syndrome. After fertilization; cells start to divide rapidly. Depending on how the cell divides determines what type of Down syndrome the child has. Mosaic Down syndrome is obtained when a cell divides abnormally, creating a string of cells with the extra chromosome. A child with Mosaic Down syndrome has both cells: the normal 46 chromosomes, and the Down syndrome 47 chromosomes. It is believed that babies with Mosaic Down syndrome experience mild symptoms of the disorder.

Down Syndrome is also known as Trisomy 21, is a disorder that occurs when an extra chromosome is present on the 21st chromosome. There

There are 23 pairs of chromosomes in a normal human cell. Trisomy 21 or Down syndrome occurs when there is a third copy of chromosome 21 and causes malformation in body and brain development. Giving birth to a child with down syndrome increases as the mother ages. The odds of having a child with trisomy 21 are 1 in 1000 for women under the age of 35. This increases to 1 in 200 for women 35 and older. Thus, while not completely avoidable, it is best to have children while the mother is still under 35 to allow the child to be less likely to be born with down syndrome.

Down syndrome is a genetic disorder in which a person is born with an extra copy of chromosome 21. There are three genetic variations that cause Down syndrome: Trisomy 21, Mosaic Trisomy 21 or Translocation Trisomy 21. There are many ways in which theses disorders affect the body.  Trisomy 21 occurs when an egg or sperm comes in with an extra copy of chromosome 21, then, once an embryo is formed and starts to develop, the chromosome is replicated in every single cell of the embryo. Trisomy 21 is the most common type of Down syndrome. About 92% of Down syndrome patients have this type. People with Trisomy usually have physical problems.

   Trisomy occurs when a child has an extra 21 chromosome known as trisomy 21.  This means that a child with Down syndrome has forty-seven chromosomes in each cell, instead of the normal number of forty-six chromosomes. This form of chromosome error, trisomy 21, is found in about ninety five percent of persons with Down syndrome.  In three-four percent of people with Down syndrome, the second type, translocation occurs.  Translocation happens when an extra 21 chromosome is attached or translocated on to another chromosome.  With this type in one-third of the cases a parent is the carrier of translocation and that is why it is important to examine the parents' chromosomes.  The last chromosome abnormality is mosaicism.  This type results from an error in cell division soon after conception and with it some cells have forty-seven chromosomes while others have forty-six chromosomes.  However, only one percent of individuals has this type of chromosome abnormality (Moss).

Trisomy 21 is caused by an error in cell division which is called nondisjunction. Nondisjunction results when the embryo gets three copies of chromosome 21 instead of two. This usually occurs at or prior to conception, a pair of 21st chromosomes in either the sperm or the eggs fails to separate. Since this occurs so early on, the extra chromosome is then replicated in every cell of the body. This type of Down syndrome accounts for 95% of cases (“What”). Translocation accounts for about 4% of cases. In this types the total number of chromosomes in the cells remain 46, but an additional full or partial copy of chromosome 21 attaches to another chromosome (usually 14). The presence of the extra full or partial chromosome 21 causes the characteristics of Down syndrome (“What”). Mosaicism or mosaic Down syndrome is a mixture of the two other types. It is characterized by a mixture of two types of cells, some containing the usual 46 chromosomes and some containing 47. The cells that do contain 47 chromosomes contain an extra chromosome 21. This type accounts for only 1% of all the cases of Down syndrome. Some research has shown that individuals with mosaic Down syndrome may have fewer characteristics of Down syndrome that those with other types

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Down Syndrome is a condition where people are born with an extra chromosome. It is a mental and physical trait that is usually caused by a gene issue. It is common in one out of 800 births and can affect all races and genders (My Child Without Limits.org). This disease is life long and there is no cure for it. The only way to help is by loving and supporting the person who is affected. Generally, a person is born with 46 chromosomes but people affected with this disease have 47 chromosomes. People with more than the standard number of chromosomes tend to have brain development issues. There are more than 400,000 people living in the United States with this disease. Life span for Down syndrome patients have increased over the years. Back in the day, people with this were not expected to live past childhood years. Now, Down syndrome patients can live to sixty and numerous live way beyond that age.

Nondisjunction is the error in cell division that usually causes Down syndrome. Nondisjunction causes an embryo to have three copies of chromosome 21 instead of the usual two. Sometime prior to, or at conception, a pair of number 21 chromosomes, either in the sperm or the egg, fail to separate. Trisomy 21 happens in the egg 95 percent of cases and in the sperm only five percent. The extra chromosome replicates in every cell of the body as the embryo develops. Trisomy 21 accounts for about 95% of cases.

Some major causes are, error in cell division, they might have 47 chromosomes instead of 46 in their DNA. The reason that there would be an extra cell is called (non dis conjunction). 90% of the time down syndrome comes from the mother and 10% of the time it comes from the father.

Around 5300 babies with Down syndrome are born in the United States each year, and approximately 200,000 people in this country have the condition. (de Graaf G, Buckley F, Skotko BG, 2016). While Down syndrome cannot be inherited, the number of babies with Down syndrome born each year is alarming. Despite the fact that Down syndrome can be detected before birth, there is no known way to cure it. As such, the parents whose child have been diagnosed to have Down syndrome have to decide whether to keep the child or not.

Usually, the 21st chromosome has three chromosomes instead of two, causing the child to have a condition called Down syndrome, or known to some people as the 21st syndrome disease. Down syndrome is also known to some people a trisomy 21.